| Entrez gene ID | | 50485 |
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| Official gene symbol | | SMARCAL1 |
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| Full name | | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
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| Aliases | | ,HARP,HHARP, |
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| Gene summary | | The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq] |
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| Location | | Chromosome: 2 Locus: 2q34-q35 |
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| Gene position | | 217277137 - 217347776 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 70640 bp |
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| Gene sequence |
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| OMIM ID | | 606622 |
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